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The association of Waardenburg syndrome and Hirschsprung megacolon

✍ Scribed by Omenn, Gilbert S. ;McKusick, Victor A. ;Gorlin, Robert J.


Publisher
John Wiley and Sons
Year
1979
Tongue
English
Weight
479 KB
Volume
3
Category
Article
ISSN
0148-7299

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We have studied a large Mennonite kindred in which 20 members were affected with Hirschsprung disease (HSCR), 5 of whom had one or more manifestations of Waardenburg syndrome (WS) type I1 (WS2). Eleven additional relatives had signs of WS2 without HSCR. Since HSCR and WS2 each represent perturbation

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## Abstract Type 4 Waardenburg syndrome represents a well define entity caused by neural crest derivatives anomalies (melanocytes, intrinsic ganglion cells, central, autonomous and peripheral nervous systems) leading, with variable expressivity, to pigmentary anomalies, deafness, mental retardation